Canonical Allele Identifier: CA891843183

Gene: DSP

Linked Data

• ClinVar Variation Id: 574161
• ClinVar RCV Id: RCV000696017
• dbSNP Id: rs1561704475
• MyVariant Identifiers: chr6:g.7585369_7585370del (hg19) ; chr6:g.7585136_7585137del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585136_7585137del , CM000668.2:g.7585136_7585137del	GRCh38
NC_000006.11:g.7585369_7585370del , CM000668.1:g.7585369_7585370del	GRCh37
NC_000006.10:g.7530368_7530369del	NCBI36
NG_008803.1:g.48500_48501del , LRG_423:g.48500_48501del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.6545_6546del	ENSP00000518230.1:p.Thr2182ArgfsTer18
ENST00000379802.8:c.7874_7875del MANE Select	ENSP00000369129.3:p.Thr2625ArgfsTer18
ENST00000379802.7:c.7874_7875del	ENSP00000369129.3:p.Thr2625ArgfsTer18
ENST00000418664.2:c.6077_6078del	ENSP00000396591.2:p.Thr2026ArgfsTer18
NM_001008844.1:c.6077_6078del	NP_001008844.1:p.Thr2026ArgfsTer18
NM_004415.2:c.7874_7875del , LRG_423t1:c.7874_7875del	NP_004406.2:p.Thr2625ArgfsTer18
XM_011514323.1:c.6545_6546del	XP_011512625.1:p.Thr2182ArgfsTer18
NM_001008844.2:c.6077_6078del	NP_001008844.1:p.Thr2026ArgfsTer18
NM_001319034.1:c.6545_6546del	NP_001305963.1:p.Thr2182ArgfsTer18
NM_004415.3:c.7874_7875del	NP_004406.2:p.Thr2625ArgfsTer18
NM_004415.4:c.7874_7875del MANE Select	NP_004406.2:p.Thr2625ArgfsTer18
NM_001008844.3:c.6077_6078del	NP_001008844.1:p.Thr2026ArgfsTer18
NM_001319034.2:c.6545_6546del	NP_001305963.1:p.Thr2182ArgfsTer18